R323H (p.Arg323His) variant of RPGR (Q92834)
R323H (p.Arg323His) in RPGR (Q92834) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RPGR-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R323H (p.Arg323His) variant details
- p.Arg323His
- rs2067497181
- ClinGen CA412740347
- NCI-TCGA Cosmic COSV5883
- cosmic curated COSV58833
- Uncertain significance
- RPGR-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (RPGR-related retinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Primary Ciliary Dyskinesia. (PMID 20301301)